A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum

Clin Dysmorphol. 1994 Oct;3(4):292-6.


We describe a boy with an interstitial deletion of the proximal portion of chromosome 3q. Prominent physical characteristics were a dysmorphic face with apparent hypertelorism, signs of prenatal lymphedema, foot contractures and agenesis of the corpus callosum. The finding of corpus callosum agenesis in a previously reported patient with an overlapping deletion suggests an additional locus for this malformation.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Agenesis of Corpus Callosum*
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 3*
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Male